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New Study Identifies Different Biological Subtypes of Autism
Research findings help explain why symptoms present so differently from one child to the next, and why individualized supports and interventions are essential.
Autism can look very different from person to person. One child might differ from another in how they learn, process sensory information, and experience social and communication challenges. Scientists have long suspected these differences stem from distinct biology, but proving it has been challenging — until now.
A recent study published in Nature Neuroscience has identified two biological subtypes of autism linked to different pathways in the brain.
Researchers from the Child Mind Institute, the Istituto Italiano di Tecnologia, and other international partners analyzed brain connection patterns in nearly 2,000 individuals, including 940 autistic people from the Autism Brain Imaging Data Exchange (ABIDE). By combining human brain-imaging datasets with complementary biological data, they identified two consistent patterns in how different brain regions communicate.
One subtype showed reduced communication, or hypoconnectivity, among brain regions linked to pathways that help brain cells send signals to one another. The other showed increased communication, or hyperconnectivity, among brain regions linked to pathways associated with the immune system. The two subtypes exhibited differences in functional brain structure and modest differences on standardized autism assessments, with the hyperconnectivity subtype scoring moderately higher on autism severity measures.
These findings give scientists the first empirically biology-based framework for understanding autism’s complexities over time. This type of work could move the field closer to more precise, personalized approaches to medicine and care. However, this does not mean autism can now be divided into just two categories, nor does it create a new diagnostic framework. Autism is complex, and these two subtypes are likely part of a much larger picture.
The study also highlights the importance of open science. Through shared datasets like ABIDE, researchers can tackle questions too large for a single lab to answer alone.
